Incidental Mutation 'R9160:Tmx2'
| ID |
695626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmx2
|
| Ensembl Gene |
ENSMUSG00000050043 |
| Gene Name |
thioredoxin-related transmembrane protein 2 |
| Synonyms |
2310042M24Rik, Txndc14 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84501655-84509172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84503907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 162
(F162S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053664]
[ENSMUST00000102645]
[ENSMUST00000102646]
[ENSMUST00000102647]
[ENSMUST00000111664]
[ENSMUST00000111665]
[ENSMUST00000117299]
[ENSMUST00000133437]
[ENSMUST00000152149]
[ENSMUST00000189636]
[ENSMUST00000189772]
[ENSMUST00000189988]
|
| AlphaFold |
Q9D710 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053664
AA Change: F162S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059582
Gene: ENSMUSG00000050043
AA Change: F162S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
137 |
243 |
3.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102645
|
| SMART Domains |
Protein: ENSMUSP00000099705
Gene: ENSMUSG00000027080
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
55 |
N/A |
INTRINSIC |
|
Pfam:Med19
|
63 |
234 |
4e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102646
|
| SMART Domains |
Protein: ENSMUSP00000099706
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
114 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102647
|
| SMART Domains |
Protein: ENSMUSP00000099707
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
114 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111664
AA Change: F124S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107293
Gene: ENSMUSG00000050043
AA Change: F124S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
99 |
205 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111665
AA Change: F162S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107294
Gene: ENSMUSG00000050043
AA Change: F162S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
137 |
243 |
3.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117299
|
| SMART Domains |
Protein: ENSMUSP00000112635
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
114 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133437
|
| SMART Domains |
Protein: ENSMUSP00000142247
Gene: ENSMUSG00000086598
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
132 |
4.96e-11 |
SMART |
|
low complexity region
|
217 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152149
|
| SMART Domains |
Protein: ENSMUSP00000115745
Gene: ENSMUSG00000050043
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189636
|
| SMART Domains |
Protein: ENSMUSP00000139830
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
109 |
1.7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189772
|
| SMART Domains |
Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
|
ARM
|
397 |
437 |
2.53e-6 |
SMART |
|
ARM
|
440 |
481 |
2.8e-8 |
SMART |
|
ARM
|
482 |
539 |
6.3e1 |
SMART |
|
ARM
|
541 |
588 |
3.74e0 |
SMART |
|
Blast:ARM
|
651 |
693 |
9e-20 |
BLAST |
|
ARM
|
699 |
739 |
1.23e-4 |
SMART |
|
ARM
|
789 |
831 |
4.41e1 |
SMART |
|
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189988
|
| SMART Domains |
Protein: ENSMUSP00000139492
Gene: ENSMUSG00000076437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rdx
|
28 |
96 |
1e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.9726 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
G |
A |
16: 20,379,246 (GRCm39) |
R704H |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,385,526 (GRCm39) |
F533L |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,304 (GRCm39) |
V1771I |
unknown |
Het |
| Aspm |
T |
C |
1: 139,417,862 (GRCm39) |
L2911S |
probably damaging |
Het |
| Atp2b4 |
T |
C |
1: 133,660,143 (GRCm39) |
I380V |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,075,236 (GRCm39) |
L739I |
|
Het |
| Cacng6 |
T |
C |
7: 3,483,406 (GRCm39) |
S245P |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,469,916 (GRCm39) |
S1830G |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,641,538 (GRCm39) |
M660T |
probably benign |
Het |
| Dnajc6 |
G |
A |
4: 101,470,258 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,857,962 (GRCm39) |
S1451P |
unknown |
Het |
| Ehd4 |
A |
G |
2: 119,967,440 (GRCm39) |
V118A |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,206,953 (GRCm39) |
D139G |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,515,715 (GRCm39) |
E1601K |
possibly damaging |
Het |
| Fermt3 |
A |
T |
19: 6,991,785 (GRCm39) |
L142Q |
probably damaging |
Het |
| Gfral |
A |
T |
9: 76,104,372 (GRCm39) |
N213K |
possibly damaging |
Het |
| Gria4 |
A |
G |
9: 4,424,412 (GRCm39) |
F818L |
probably damaging |
Het |
| H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,761 (GRCm39) |
D339G |
unknown |
Het |
| Hpn |
G |
T |
7: 30,808,402 (GRCm39) |
P78T |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,610,782 (GRCm39) |
V175E |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,276,099 (GRCm39) |
L736P |
probably damaging |
Het |
| Klhl6 |
G |
T |
16: 19,775,772 (GRCm39) |
P262Q |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mc5r |
A |
T |
18: 68,472,205 (GRCm39) |
Y188F |
probably damaging |
Het |
| Mob1b |
T |
C |
5: 88,904,017 (GRCm39) |
S218P |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,201,982 (GRCm39) |
I248V |
possibly damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Or1e29 |
A |
T |
11: 73,667,881 (GRCm39) |
S91T |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,318 (GRCm39) |
M1K |
probably null |
Het |
| Or2o1 |
G |
T |
11: 49,051,261 (GRCm39) |
W140L |
probably damaging |
Het |
| Or5j3 |
A |
T |
2: 86,128,330 (GRCm39) |
T57S |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,465 (GRCm39) |
I507N |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,408 (GRCm39) |
D1294G |
possibly damaging |
Het |
| Psg28 |
A |
G |
7: 18,164,640 (GRCm39) |
L24P |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,087,933 (GRCm39) |
D868E |
probably benign |
Het |
| Ptpn6 |
G |
C |
6: 124,705,135 (GRCm39) |
R264G |
possibly damaging |
Het |
| Rnf10 |
T |
A |
5: 115,398,249 (GRCm39) |
M95L |
probably benign |
Het |
| Rnf40 |
C |
T |
7: 127,190,993 (GRCm39) |
T326I |
probably damaging |
Het |
| Rp1 |
G |
T |
1: 4,416,720 (GRCm39) |
T1464K |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,047,053 (GRCm39) |
E723G |
probably benign |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,445 (GRCm39) |
|
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
| Sorcs1 |
A |
T |
19: 50,213,658 (GRCm39) |
C690S |
probably damaging |
Het |
| Spag16 |
T |
A |
1: 69,962,873 (GRCm39) |
M340K |
probably benign |
Het |
| Stk3 |
A |
G |
15: 35,099,611 (GRCm39) |
V107A |
probably damaging |
Het |
| Tlr1 |
T |
A |
5: 65,083,653 (GRCm39) |
H308L |
probably benign |
Het |
| Vmn2r57 |
C |
T |
7: 41,076,159 (GRCm39) |
S451N |
possibly damaging |
Het |
| Zbtb49 |
T |
A |
5: 38,363,246 (GRCm39) |
I446F |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,783,189 (GRCm39) |
I493N |
probably damaging |
Het |
|
| Other mutations in Tmx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Tmx2
|
APN |
2 |
84,503,643 (GRCm39) |
missense |
probably benign |
|
|
IGL02458:Tmx2
|
APN |
2 |
84,503,588 (GRCm39) |
unclassified |
probably benign |
|
|
R0201:Tmx2
|
UTSW |
2 |
84,503,426 (GRCm39) |
missense |
probably benign |
|
|
R0240:Tmx2
|
UTSW |
2 |
84,506,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Tmx2
|
UTSW |
2 |
84,506,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Tmx2
|
UTSW |
2 |
84,502,740 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0617:Tmx2
|
UTSW |
2 |
84,502,740 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1651:Tmx2
|
UTSW |
2 |
84,506,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4791:Tmx2
|
UTSW |
2 |
84,508,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5793:Tmx2
|
UTSW |
2 |
84,506,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7990:Tmx2
|
UTSW |
2 |
84,506,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8739:Tmx2
|
UTSW |
2 |
84,505,745 (GRCm39) |
unclassified |
probably benign |
|
|
X0064:Tmx2
|
UTSW |
2 |
84,506,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAAAGCATAGCTACCTAGG -3'
(R):5'- AGTGCCTCGGATGTATTAGGC -3'
Sequencing Primer
(F):5'- GCATAGCTACCTAGGTAAGAAAGG -3'
(R):5'- GATTCAATCCCTGGCACCGATAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation